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O14493 (CLD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Claudin-4
Alternative name(s):
Clostridium perfringens enterotoxin receptor
Short name=CPE-R
Short name=CPE-receptor
Williams-Beuren syndrome chromosomal region 8 protein
Gene names
Name:CLDN4
Synonyms:CPER, CPETR1, WBSCR8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length209 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays a major role in tight junction-specific obliteration of the intercellular space By similarity.

Subunit structure

Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with EPHA2; phosphorylates CLDN4 and may regulate tight junctions. Ref.4

Subcellular location

Cell junctiontight junction By similarity. Cell membrane; Multi-pass membrane protein By similarity.

Post-translational modification

Phosphorylated. Phosphorylation by EPHA2 is stimulated by EFNA1 and alters interaction with TJP1. Ref.4

Involvement in disease

CLDN4 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Sequence similarities

Belongs to the claudin family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 209209Claudin-4
PRO_0000144743

Regions

Topological domain1 – 77Cytoplasmic Potential
Transmembrane8 – 2821Helical; Potential
Topological domain29 – 8153Extracellular Potential
Transmembrane82 – 10221Helical; Potential
Topological domain103 – 11715Cytoplasmic Potential
Transmembrane118 – 13821Helical; Potential
Topological domain139 – 16022Extracellular Potential
Transmembrane161 – 18121Helical; Potential
Topological domain182 – 20928Cytoplasmic Potential
Region1 – 103103Interaction with EPHA2
Region208 – 2092Interactions with TJP1, TJP2 and TJP3 By similarity

Amino acid modifications

Modified residue2081Phosphotyrosine; by EPHA2 Ref.4

Experimental info

Mutagenesis2081Y → F: Loss of phosphorylation by EPHA2. Ref.4

Sequences

Sequence LengthMass (Da)Tools
O14493 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 0659A93AA5F0E4C5

FASTA20922,077
        10         20         30         40         50         60 
MASMGLQVMG IALAVLGWLA VMLCCALPMW RVTAFIGSNI VTSQTIWEGL WMNCVVQSTG 

        70         80         90        100        110        120 
QMQCKVYDSL LALPQDLQAA RALVIISIIV AALGVLLSVV GGKCTNCLED ESAKAKTMIV 

       130        140        150        160        170        180 
AGVVFLLAGL MVIVPVSWTA HNIIQDFYNP LVASGQKREM GASLYVGWAA SGLLLLGGGL 

       190        200 
LCCNCPPRTD KPYSAKYSAA RSAAASNYV 

« Hide

References

« Hide 'large scale' references
[1]"Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo."
Katahira J., Sugiyama H., Inoue N., Horiguchi Y., Matsuda M., Sugimoto N.
J. Biol. Chem. 272:26652-26658(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Fetal brain.
[2]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Colon.
[4]"EphA2 phosphorylates the cytoplasmic tail of Claudin-4 and mediates paracellular permeability."
Tanaka M., Kamata R., Sakai R.
J. Biol. Chem. 280:42375-42382(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH EPHA2 AND TJP1, MUTAGENESIS OF TYR-208, PHOSPHORYLATION AT TYR-208 BY EPHA2.
[5]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB000712 mRNA. Translation: BAA22984.1.
BT006989 mRNA. Translation: AAP35635.1.
BC000671 mRNA. Translation: AAH00671.1.
RefSeqNP_001296.1. NM_001305.4.
UniGeneHs.647036.
Hs.729359.

3D structure databases

ProteinModelPortalO14493.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107756. 2 interactions.
STRING9606.ENSP00000342445.

Protein family/group databases

TCDB1.H.1.1.6. the claudin tight junction (claudin) family.

PTM databases

PhosphoSiteO14493.

Proteomic databases

PaxDbO14493.
PRIDEO14493.

Protocols and materials databases

DNASU1364.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000340958; ENSP00000342445; ENSG00000189143.
ENST00000431918; ENSP00000388639; ENSG00000189143.
ENST00000435050; ENSP00000409544; ENSG00000189143.
ENST00000573160; ENSP00000461070; ENSG00000262988.
ENST00000573932; ENSP00000460384; ENSG00000262988.
ENST00000574332; ENSP00000461587; ENSG00000262988.
GeneID1364.
KEGGhsa:1364.
UCSCuc003tzi.4. human.

Organism-specific databases

CTD1364.
GeneCardsGC07P073213.
HGNCHGNC:2046. CLDN4.
HPACAB002610.
HPA007322.
MIM602909. gene.
neXtProtNX_O14493.
PharmGKBPA26572.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG46413.
HOGENOMHOG000220937.
HOVERGENHBG000643.
InParanoidO14493.
KOK06087.
OMATAHNVIR.
OrthoDBEOG79KPGQ.
PhylomeDBO14493.
TreeFamTF331936.

Enzyme and pathway databases

ReactomeREACT_111155. Cell-Cell communication.

Gene expression databases

ArrayExpressO14493.
BgeeO14493.
CleanExHS_CLDN4.
GenevestigatorO14493.

Family and domain databases

InterProIPR006187. Claudin.
IPR003550. Claudin4.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERPTHR12002. PTHR12002. 1 hit.
PfamPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSPR01077. CLAUDIN.
PR01379. CLAUDIN4.
PROSITEPS01346. CLAUDIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCLDN4. human.
GeneWikiCLDN4.
GenomeRNAi1364.
NextBio5527.
PROO14493.
SOURCESearch...

Entry information

Entry nameCLD4_HUMAN
AccessionPrimary (citable) accession number: O14493
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 120 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM